Oculocutaneous albinism type 4

Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 23171239
(3523052)
 Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO.
BMC Med Genet. 2012;13:111.
Intellectual disability
G6PC3 SLC45A2
c|SUB|C|829|T;RS#:148559256 p|SUB|Q|277|X;RS#:148559256
Adult Albinism, Oculocutaneous Homo sapiens Homozygote Male Mutation Neutropenia Phenotype Sibling
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000486 Strabismus Very frequent (99-80%)
HP:0001010 Hypopigmentation of the skin Very frequent (99-80%)
HP:0001022 Albinism Very frequent (99-80%)
HP:0005599 Hypopigmentation of hair Very frequent (99-80%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000587 Abnormality of the optic nerve Frequent (79-30%)
HP:0000613 Photophobia Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001072 Thickened skin Frequent (79-30%)
HP:0007730 Iris hypopigmentation Frequent (79-30%)
HP:0002671 Basal cell carcinoma Occasional (29-5%)
HP:0002861 Melanoma Occasional (29-5%)
HP:0006739 Squamous cell carcinoma of the skin Occasional (29-5%)
HP:0007750 Hypoplasia of the fovea Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC45A2 solute carrier family 45 member 2 51151